{ "uniprot_canonical_ac": "A1L453-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L453-1|PRS38_HUMAN Isoform 1 of Serine protease 38 OS=Homo sapiens OX=9606 GN=PRSS38 PE=2 SV=2 CANONICAL=A1L453-1", "length": 326, "sequence": "MAAPASVMGPLGPSALGLLLLLLVVAPPRVAALVHRQPENQGISLTGSVACGRPSMEGKILGGVPAPERKWPWQVSVHYAGLHVCGGSILNEYWVLSAAHCFHRDKNIKIYDMYVGLVNLRVAGNHTQWYEVNRVILHPTYEMYHPIGGDVALVQLKTRIVFSESVLPVCLATPEVNLTSANCWATGWGLVSKQGETSDELQEMQLPLILEPWCHLLYGHMSYIMPDMLCAGDILNAKTVCEGDSGGPLVCEFNRSWLQIGIVSWGRGCSNPLYPGVYASVSYFSKWICDNIEITPTPAQPAPALSPALGPTLSVLMAMLAGWSVL" }, "uniprot_id": "PRS38_HUMAN", "enzyme_annotation": [ { "ec": "3.4.21.-", "activity": "" } ], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L453", "id": "A1L453", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12838346", "type": [ "PubMed" ], "id": "12838346" } ], "title": "Human and mouse proteases: a comparative genomic approach.", "journal": "Nat. Rev. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L453", "id": "A1L453", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_898885.1", "id": "NP_898885.1", "database": "RefSeq" } ], "authors": "Lopez-Otin C., Sanchez L.M., Overall C.M., Puente X.S.", "date": "2003" } ], "uniprot_ac": "A1L453", "site_annotation": [ { "end_pos": 127, "annotation": "n_glycosylation_sequon", "start_pos": 125 }, { "end_pos": 179, "annotation": "n_glycosylation_sequon", "start_pos": 177 }, { "end_pos": 256, "annotation": "n_glycosylation_sequon", "start_pos": 254 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L453#A1L453-1", "isoform_ac": "A1L453-1", "locus": { "end_pos": 227815717, "strand": "-", "start_pos": 227846205, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000366757", "id": "ENST00000366757", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000355719", "id": "ENSP00000355719", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L453-1|PRS38_HUMAN Isoform 1 of Serine protease 38 OS=Homo sapiens OX=9606 GN=PRSS38 PE=2 SV=2 CANONICAL=A1L453-1", "length": 326, "sequence": "MAAPASVMGPLGPSALGLLLLLLVVAPPRVAALVHRQPENQGISLTGSVACGRPSMEGKILGGVPAPERKWPWQVSVHYAGLHVCGGSILNEYWVLSAAHCFHRDKNIKIYDMYVGLVNLRVAGNHTQWYEVNRVILHPTYEMYHPIGGDVALVQLKTRIVFSESVLPVCLATPEVNLTSANCWATGWGLVSKQGETSDELQEMQLPLILEPWCHLLYGHMSYIMPDMLCAGDILNAKTVCEGDSGGPLVCEFNRSWLQIGIVSWGRGCSNPLYPGVYASVSYFSKWICDNIEITPTPAQPAPALSPALGPTLSVLMAMLAGWSVL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:339501", "resource": "KEGG Pathway", "id": "hsa:339501", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "F1LVG1-1", "protein_name": "Serine protease 38", "sequence": { "length": 322, "sequence": "MAAPTSGLGFLGYLLLLLLLVTPTWVTPVSHRHPKSQPNSLSSDVACGQPALHGKLLGGELTIDRKWPWQVSIHYAGFHVCGGSILNAYWVLTAAHCFAREKRLQTFDMYVGITNLEVANKHTQWFEINQVIIHPTFEMFHPVGGDVALVQSKSAIVFSDYVLPICLPSSNLNLSDLSCWTTGWGMVSPQGETGKDLLEAQLPLIPKFQCQLLYGLTSYLLPEMLCAGDIKNMKNVCEGDSGSPLVCKVNQTWLQIGIVSWGRGCAQPLYPGVFANVSYFLNWIRYNMETIPDPPQLTPFVSSSLRATVSSFVTIMGSLLVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L453/", "id": "A1L453", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18831", "id": "18831", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q3UKY7-1", "protein_name": "Serine protease 38", "sequence": { "length": 322, "sequence": "MAALTSGLGVLGYLLFPLLLASPTWVTSVSRRHPKSQANSLSGDVACGQPVLQGKLLGGEFARDRKWPWQVSLHYSGFHICGGSILSAYWVLSAAHCFDRGKKLETYDIYVGITNLEKANRHTQWFEIYQVIIHPTFQMYHPIGGDVALVQLKSAIVFSDFVLPICLPPSDLYLINLSCWTTGWGMISPQGETGNELLEAQLPLIPRFQCQLLYGLSSYLLPEMLCAADIKTMKNVCEGDSGSPLVCKQNQTWLQIGIVSWGRGCAQPLYPGVFANVSYFLSWIRYHLQIIPNPPQILPSLSSSPKNTLIIFVTIMGHLLVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L453/", "id": "A1L453", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18831", "id": "18831", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "C", "start_pos": 101, "alt_nt": "A", "chr_id": "1", "ref_nt": "C", "chr_pos": "228003945", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L453", "id": "A1L453", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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